The constellation of aniridia, retardation (mental), and genitourinary anomalies has been associated with a predisposition to Wilms' tumor and is termed the WAGR syndrome. Deletion of the short arm of chromosome 11 involving the 11p13 band accounts for most cases21,286,330,374; one patient has had aniridia and Wilms tumor without a microscopically detectable dele-tion.285 Aniridia may be associated with other ocular malformations including cataract, glaucoma, corneal dystrophies, and macular hypoplasia. Genitourinary malformations appear to be more common in males and include cryptorchidism, hypospadias, and pseudohermaphroditism; renal anomalies may be present. Microcephaly, cardiac malformations, and polydactyly have been reported. Although Wilms' tumor has been the embryonal tumor usually associated with this syndrome, benign gonadoblastoma has also been reported.374
The deletion may occur de novo or as a consequence of meiotic events in a normal carrier parent. The gene for catalase has been mapped in the proximity of the aniridia locus in band p13 on the short arm of chromosome 11,172 and the activity of this enzyme is reduced in the presence of some deletions.21,240
All children with aniridia and this deletion should be followed carefully by abdominal ultrasound to facilitate early detection of Wilms' tumor.
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